Familial granulovacuolar lobular myopathy with electrical myotonia

Augusto Juguilon, David Chad, Walter G Bradley, Lester Adelman, John Kelemen, Peter Bosch, Theodore L. Munsat

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We report 3 patients with a myopathy characterized by profound selective muscle wasting and weakness, electrical myotonia without clinical myotonia and an unusual muscle biopsy. Cryostat sections showed muscle fibers with vacuoles containing hematoxylinophilic granules, and 30% of type I fibers showed demarcation of their sarcoplasm into "lobules" due apparently to reorganization of myofibrillar elements. The electrical myotonia suggests an underlying muscle membrane defect. Two of the patients are siblings suggesting that the disorder may be inherited.

Original languageEnglish
Pages (from-to)133-140
Number of pages8
JournalJournal of the Neurological Sciences
Volume56
Issue number2-3
DOIs
StatePublished - Jan 1 1982
Externally publishedYes

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Myotonia
Muscles
Muscle Weakness
Muscular Diseases
Vacuoles
Siblings
Biopsy
Membranes
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

Cite this

Familial granulovacuolar lobular myopathy with electrical myotonia. / Juguilon, Augusto; Chad, David; Bradley, Walter G; Adelman, Lester; Kelemen, John; Bosch, Peter; Munsat, Theodore L.

In: Journal of the Neurological Sciences, Vol. 56, No. 2-3, 01.01.1982, p. 133-140.

Research output: Contribution to journalArticle

Juguilon, A, Chad, D, Bradley, WG, Adelman, L, Kelemen, J, Bosch, P & Munsat, TL 1982, 'Familial granulovacuolar lobular myopathy with electrical myotonia', Journal of the Neurological Sciences, vol. 56, no. 2-3, pp. 133-140. https://doi.org/10.1016/0022-510X(82)90136-8
Juguilon, Augusto ; Chad, David ; Bradley, Walter G ; Adelman, Lester ; Kelemen, John ; Bosch, Peter ; Munsat, Theodore L. / Familial granulovacuolar lobular myopathy with electrical myotonia. In: Journal of the Neurological Sciences. 1982 ; Vol. 56, No. 2-3. pp. 133-140.
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